Homologous Recombination Deficiency

The HRD step assess the status of homologous recombination deficiency by evaluating small DNA variants and copy number deletion in 15 HRD-related target genes. HRD module contains two steps: QC and reporting. In QC step, sample with PCT_EXON_1000X >=80% among 15 target genes and pass contamination criteria will be determined PASS otherwise FAIL. In reporting step, small variants that cause protein truncation, splice events and not overlap with exclusion criteria will be included. CNV deletion found in samples pass CNV QC will also be included. To determine HRD status:

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Sample that passes qc and has passing SNV or CNV events will be reported as Positive.

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Sample that passes qc and has no passing SNV and CNV events will be reported as negative

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Sample that failed qc and has no passing SNV and CNV events will be reported as Not Available